A new study analyzed the DNA of an entire family of four for the first time. The study was made possible by cheap sequencing from Calif.-based Complete Genomics, which offers sequencing for a mere $5,000 per genome. (Source: ABC News)

Someday soon your family might be able to get its genome sequenced too

The
Institute for Systems Biology (ISB) and the University of Luxembourg
have published an intriguing
new study in the journal Science,
in which they detail the genome sequencing and analysis of a family
of four humans. The sequencing marks the first time a family of
four has had their genomes sequenced, and follows many individual
sequencing projects over the last decade.

David Galas, PhD, a
corresponding author on the paper who works at the ISB, says the work
offers a glimpse of how family genome sequencing could aid in
identification and understanding of disease. He states, "We
were very pleased and a little surprised at how much additional
information can come from examining the full genomes of the same
family. Comparing the sequences of unrelated individuals is
useful, but for a family the results are more accurate. We can now
see all the genetic variations, including rare ones, and can
construct the inheritance of every piece of the chromosomes, which is
critical to understanding the traits important to health and
disease."

Currently, genome
sequencing prices have been plummeting thanks to better
techniques and equipment. In 2007, the cost was around $1M
USD -- in 2008 Applied Biosystems of Foster City, California
sequenced the genome of a Nigerian man for only $60,000. In
2009, Complete Genomics, based in Mountain View, California, claimed
it could read entire human genomes for $5,000.

Nonetheless,
the number of complete genomes sequenced remains relatively low.
The X Prize foundation has offered
a $10M USD reward to the first person or firm that can
sequence 100 human genomes in less than 10 days for less than $10,000
each.

The new sequencing project at the ISB emphasizes the
benefits of sequencing for the masses. ISB and the University
of Luxembourg actually partnered with Complete Genomics to complete
the sequencing.

The sequencing allowed the identification of
genes related to two genetic disorders that the children had --
Miller syndrome, a rare craniofacial disorder, and primary ciliary
dyskinesia (PCD), a lung disease. In the case of Miller's
syndrome, the sequencing allowed the number of candidate genes (genes
that might cause the disorder) to be reduced to four.

ISB
President Leroy Hood, MD, PhD, comments, "An important finding
is that by determining the genome sequences of an entire family one
can identify many DNA sequencing errors, and thus greatly increase
the accuracy of the data. This will ultimately help us
understand the role of genetic variations in the diagnosis,
treatment, and prevention of disease."

Another exciting
result from the study is the first direct measurement of the
intergenerational mutation rate. The researchers found that the
rate works at half the rate predicted by researchers, hinting at a
potentially slower pace of human
microevolution.

Concludes Professor Galas,
"This estimate could have implications for how we think about
genetic diversity, but more importantly the approach has the
potential to increase enormously the power and impact of genetic
research. Our study illustrates the beginning of a new era in
which the analysis of a family's genome can aid in the diagnosis and
treatment of individual family members. We could soon find that our
family's genome sequence will become a normal part of our medical
records."

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